Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes

Waardenburg syndrome (WS) is a genetic disorder characterized primarily by depigmentation of the skin and hair, heterochromia of the irides, sensorineural deafness, and sometimes by dystopia canthorum, and Hirschsprung disease. WS presents a large clinical and genetic heterogeneity. Four different t...

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Bibliographic Details
Published inMolecular syndromology Vol. 1; no. 4; pp. 169 - 175
Main Authors Haddad, N.M., Ente, D., Chouery, E., Jalkh, N., Mehawej, C., Khoueir, Z., Pingault, V., Mégarbané, A.
Format Journal Article
LanguageEnglish
Published Basel, Switzerland S. Karger AG 01.01.2011
Subjects
Short Report
Autosomal dominant
Lebanon
Autosomal recessive
Gene
Waardenburg syndrome
Mutation
Syria
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Summary:Waardenburg syndrome (WS) is a genetic disorder characterized primarily by depigmentation of the skin and hair, heterochromia of the irides, sensorineural deafness, and sometimes by dystopia canthorum, and Hirschsprung disease. WS presents a large clinical and genetic heterogeneity. Four different types have been individualized and linked to 5 different genes. We report 2 cases of WS type II and 1 case of WS type IV from Lebanon and Syria. The genetic studies revealed 2 novel mutations in the MITF gene of the WS type II cases and 1 novel homozygous mutation in the EDNRB gene of the WS type IV case. This is the first molecular study of patients from the Arab world. Additional cases will enable a more detailed description of the clinical spectrum of Waardenburg syndrome in this region.
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ISSN:1661-8769
1661-8777
DOI:10.1159/000322891